Submissions for variant NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)

dbSNP: rs1579884900

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV001027978	SCV002020208	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2020-07-28	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV001027978	SCV005438871	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency		criteria provided, single submitter	clinical testing	The observed stop gained c.370C>T p.Arg124Ter variant in OXCT1 gene has been reported previously in individuals affected with Succinyl-CoA:3-oxoacid CoA transferase SCOT deficiency Grünert et al., 2021. The p.Arg124Ter variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Likely Pathogenic. Computational evidence MutationTaster - Disease causing predicts damaging effect on protein structure and function for this variant. The nucleotide change c.370C>T in OXCT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This sequence change creates a premature translational stop signal p.Arg124Ter in the OXCT1 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001027978	SCV001190726	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2020-02-05	no assertion criteria provided	clinical testing